W16* (p.Trp16Ter) variant of ITGA2B (Integrin alpha-IIb)
W16* (p.Trp16Ter) in ITGA2B (Integrin alpha-IIb) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes structural context.
W16* (p.Trp16Ter) variant details
- p.Trp16Ter
- rs2143507207
- ClinGen CA399807046
- ClinVar RCV002511531
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.472
- AlphaMissense 0.18
- MetaLR 0.62
- MetaSVM -0.22
- PolyPhen-2 0.00
- SIFT 0.03
- MutPred 0.73
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available